{
    "disease_id": "DOID:0070264",
    "recommended_name": {
        "id": "DOID:0070264",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070264",
        "name": "congenital disorder of glycosylation type IIl",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11."
    },
    "synonyms": [
        {
            "id": "DOID:0070264",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070264",
            "name": "CDG IIl",
            "description": ""
        },
        {
            "id": "DOID:0070264",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070264",
            "name": "CDG syndrome type IIL",
            "description": ""
        },
        {
            "id": "DOID:0070264",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070264",
            "name": "CDG2L",
            "description": ""
        },
        {
            "id": "DOID:0070264",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070264",
            "name": "COG6-CGD",
            "description": ""
        },
        {
            "id": "DOID:0070264",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070264",
            "name": "Congenital disorder of glycosylation type 2l",
            "description": ""
        },
        {
            "id": "DOID:0070264",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070264",
            "name": "CDGIIl",
            "description": ""
        },
        {
            "id": "MONDO:0013810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013810",
            "name": "COG6-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0013810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013810",
            "name": "CDG syndrome type IIL",
            "description": ""
        },
        {
            "id": "MONDO:0013810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013810",
            "name": "CDG-IIL",
            "description": ""
        },
        {
            "id": "MONDO:0013810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013810",
            "name": "CDG2L",
            "description": ""
        },
        {
            "id": "MONDO:0013810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013810",
            "name": "COG6-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013810",
            "name": "COG6-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0013810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013810",
            "name": "congenital disorder of glycosylation type 2l",
            "description": ""
        },
        {
            "id": "MONDO:0013810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013810",
            "name": "congenital disorder of glycosylation type IIL",
            "description": ""
        },
        {
            "id": "MONDO:0013810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013810",
            "name": "CDGIIl",
            "description": ""
        },
        {
            "id": "MONDO:0013810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013810",
            "name": "COG6-CDG (CDG-IIL)",
            "description": ""
        },
        {
            "id": "MONDO:0013810",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013810",
            "name": "congenital disorder of glycosylation, type IIL",
            "description": ""
        },
        {
            "id": "MIM:614576",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614576",
            "name": "Congenital disorder of glycosylation 2L",
            "description": "Congenital disorder of glycosylation 2L"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070264"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070264",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070264",
            "categories": []
        },
        {
            "id": "MONDO:0013810",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013810",
            "categories": []
        },
        {
            "id": "MIM:614576",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614576",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IS45-1",
            "uniprot_ac": "A0A0R4IS45",
            "uniprot_id": "A0A0R4IS45_DANRE",
            "refseq_ac": "NP_001307276",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 6",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 6",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cog6",
                    "type": "recommended"
                },
                {
                    "name": "cog6",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-203f4.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56117",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IS45-1",
            "evidence": [
                {
                    "id": "0070264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R3I3-1",
            "uniprot_ac": "Q8R3I3",
            "uniprot_id": "COG6_MOUSE",
            "refseq_ac": "NP_080501",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 6",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 6",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex protein 6",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog6",
                    "type": "recommended"
                },
                {
                    "name": "4933405E16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cog6",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1134",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1134",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R3I3-1",
            "evidence": [
                {
                    "id": "0070264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2V7-1",
            "uniprot_ac": "Q9Y2V7",
            "uniprot_id": "COG6_HUMAN",
            "refseq_ac": "NP_001138551",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 6",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 6",
                    "type": "synonym"
                },
                {
                    "name": "complexed with Dor1p 2",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex protein 6",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 41",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG6",
                    "type": "recommended"
                },
                {
                    "name": "CDG2L",
                    "type": "synonym"
                },
                {
                    "name": "COD2",
                    "type": "synonym"
                },
                {
                    "name": "COG6",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1134",
                    "type": "synonym"
                },
                {
                    "name": "SHNS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2V7-1",
            "evidence": [
                {
                    "id": "0013810",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013810"
                },
                {
                    "id": "614576",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614576"
                },
                {
                    "id": "COG6",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/COG6/#!details"
                },
                {
                    "id": "0070264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53959-1",
            "uniprot_ac": "P53959",
            "uniprot_id": "COG6_YEAST",
            "refseq_ac": "NP_014357",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 6",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Complexed with DOR1 protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 6",
                    "type": "synonym"
                },
                {
                    "name": "Golgi transport complex subunit COG6",
                    "type": "synonym"
                },
                {
                    "name": "Protein SEC37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG6",
                    "type": "recommended"
                },
                {
                    "name": "COD2",
                    "type": "synonym"
                },
                {
                    "name": "COG6",
                    "type": "synonym"
                },
                {
                    "name": "N2675",
                    "type": "synonym"
                },
                {
                    "name": "SEC37",
                    "type": "synonym"
                },
                {
                    "name": "TFI2",
                    "type": "synonym"
                }
            ],
            "record_id": "P53959-1",
            "evidence": [
                {
                    "id": "0070264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FP9-1",
            "uniprot_ac": "Q68FP9",
            "uniprot_id": "COG6_RAT",
            "refseq_ac": "NP_001004262",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 6",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 6",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog6",
                    "type": "recommended"
                },
                {
                    "name": "Cog6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FP9-1",
            "evidence": [
                {
                    "id": "0070264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070264"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V564-1",
            "uniprot_ac": "Q9V564",
            "uniprot_id": "COG6_DROME",
            "refseq_ac": "NP_610476",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 6",
                    "type": "recommended"
                },
                {
                    "name": "CG1968-PB",
                    "type": "synonym"
                },
                {
                    "name": "COG complex subunit 6",
                    "type": "synonym"
                },
                {
                    "name": "Cog6-PB",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 6",
                    "type": "synonym"
                },
                {
                    "name": "component of oligomeric golgi complex 6, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog6",
                    "type": "recommended"
                },
                {
                    "name": "CG1968",
                    "type": "synonym"
                },
                {
                    "name": "Cog6",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1968",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V564-1",
            "evidence": [
                {
                    "id": "0070264",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070264"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070264"
}